Variant report

Variant	rs1210829
Chromosome Location	chr22:20308800-20308801
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr22:20308491-20308914	K562	blood:	n/a	n/a
2	POLR2A	chr22:20308259-20308893	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:20308664-20309241	A549	lung:	n/a	n/a
4	MXI1	chr22:20306286-20308937	IMR90	lung:	n/a	chr22:20308269-20308278
5	POLR2A	chr22:20306644-20309261	K562	blood:	n/a	n/a
6	POLR2A	chr22:20306614-20309101	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr22:20306104-20309839	K562	blood:	n/a	chr22:20307845-20307857 chr22:20307846-20307856 chr22:20308913-20308921 chr22:20307847-20307855 chr22:20308056-20308067 chr22:20307847-20307855 chr22:20307848-20307855 chr22:20306866-20306875 chr22:20307384-20307393
8	POLR2A	chr22:20308756-20308900	ProgFib	skin:	n/a	n/a
9	HDAC2	chr22:20308640-20309211	K562	blood:	n/a	n/a
10	MAZ	chr22:20306883-20308820	IMR90	lung:	n/a	chr22:20306907-20306916 chr22:20307846-20307855
11	POLR2A	chr22:20308543-20309544	SK-N-MC	brain:	n/a	n/a
12	HEY1	chr22:20307218-20309173	K562	blood:	n/a	chr22:20307873-20307888
13	POLR2A	chr22:20308682-20308804	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr22:20306703-20309192	K562	blood:	n/a	n/a
15	POLR2A	chr22:20306432-20313022	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20307048..20310579-chr22:20752794..20755892,3	K562	blood:
2	chr22:20305008..20309233-chr22:20745056..20749818,6	K562	blood:
3	chr22:20305880..20308844-chr22:20746915..20751265,6	K562	blood:
4	chr22:20304415..20312117-chr22:20747096..20751443,9	MCF-7	breast:
5	chr22:20284063..20288249-chr22:20303567..20308986,5	K562	blood:
6	chr22:20102518..20106468-chr22:20306636..20309689,4	K562	blood:
7	chr22:18890724..18893575-chr22:20307775..20310856,3	MCF-7	breast:
8	chr22:20284435..20289251-chr22:20305915..20309120,4	K562	blood:
9	chr22:20307048..20310723-chr22:20752794..20755955,4	K562	blood:

Variant related genes	Relation type
DGCR6L	TF binding region
ENSG00000273343	TF binding region
ENSG00000099899	Chromatin interaction
ENSG00000185252	Chromatin interaction
ENSG00000183628	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000161132	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1210828	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12627754	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs6518604	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs901790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
3	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
4	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
7	esv2758536	chr22:20026493-20309447	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv2758825	chr22:20026493-20309447	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv828950	chr22:20057967-20311988	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
10	esv1793574	chr22:20075870-20728868	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv914332	chr22:20082961-20339310	Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
12	nsv914337	chr22:20087539-20330895	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	esv1832132	chr22:20089802-20728868	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1061349	chr22:20091394-20734304	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
15	esv1804395	chr22:20093565-20485443	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
16	esv1850291	chr22:20093565-20666528	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
17	esv1824760	chr22:20093565-20728868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
19	nsv828951	chr22:20109578-20310046	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
20	nsv869949	chr22:20126918-20719112	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
21	nsv914360	chr22:20165632-20339310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
22	nsv914361	chr22:20181136-20313299	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
23	nsv588253	chr22:20287286-20344527	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv979635	chr22:20295282-20321676	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	esv1847376	chr22:20295573-20485443	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
26	esv1812390	chr22:20301036-20367573	Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv471478	chr22:20305447-20504066	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
28	nsv471543	chr22:20305447-20504066	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
29	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20306600-20308800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr22:20306600-20308800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:20306600-20309000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:20306800-20308800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:20307000-20308800	Active TSS	Psoas Muscle	Psoas
6	chr22:20307000-20309000	Active TSS	Esophagus	oesophagus
7	chr22:20307000-20309200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:20307000-20309400	Active TSS	NHLF	lung
9	chr22:20307800-20308800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:20307800-20308800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:20308000-20308800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr22:20308000-20308800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:20308000-20308800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr22:20308000-20308800	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr22:20308000-20308800	Flanking Active TSS	Placenta	Placenta
16	chr22:20308000-20308800	Flanking Active TSS	NH-A	brain
17	chr22:20308000-20309000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr22:20308000-20309200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr22:20308200-20308800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:20308200-20308800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:20308200-20308800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr22:20308200-20308800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:20308200-20308800	Flanking Active TSS	Liver	Liver
24	chr22:20308200-20308800	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr22:20308200-20308800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr22:20308200-20308800	Flanking Active TSS	Fetal Brain Female	brain
27	chr22:20308200-20308800	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr22:20308200-20308800	Flanking Active TSS	HMEC	breast
29	chr22:20308200-20308800	Flanking Active TSS	HSMM	muscle
30	chr22:20308200-20308800	Flanking Active TSS	HUVEC	blood vessel
31	chr22:20308200-20308800	Flanking Active TSS	K562	blood
32	chr22:20308200-20309000	Enhancers	Primary B cells from cord blood	blood
33	chr22:20308200-20309000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:20308200-20309000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr22:20308200-20309000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr22:20308200-20309000	Flanking Active TSS	Right Ventricle	heart
37	chr22:20308200-20309200	Flanking Active TSS	Dnd41	blood
38	chr22:20308200-20309400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr22:20308200-20309600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr22:20308400-20308800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:20308400-20308800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr22:20308400-20308800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr22:20308400-20308800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:20308400-20308800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:20308400-20308800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr22:20308400-20308800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:20308400-20308800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr22:20308400-20308800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:20308400-20308800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr22:20308400-20308800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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