Variant report

Variant	rs2269707
Chromosome Location	chr6:30644524-30644525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30643532-30644606	K562	blood:	n/a	n/a
2	POLR2A	chr6:30644377-30644891	HL-60	blood:	n/a	n/a
3	POLR2A	chr6:30644410-30644925	K562	blood:	n/a	n/a
4	POLR2A	chr6:30643367-30645364	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:30643778-30644886	K562	blood:	n/a	n/a
6	POLR2A	chr6:30644271-30644800	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr6:30644480-30644630	HEK293	kidney:	n/a	n/a
8	POLR2A	chr6:30643440-30645279	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:30644430-30644939	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:30644266-30644801	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30644478-30644528	ECC-1	luminal epithelium:	n/a
2	chr6:30644478-30644528	HL-60	blood:	n/a
3	chr6:30644478-30644528	NHBE	bronchial:	n/a
4	chr6:30644478-30644528	HAEpiC	amniotic membrane:	n/a
5	chr6:30644478-30644528	CMK	blood:	n/a
6	chr6:30644478-30644528	HCM	heart:	n/a
7	chr6:30644478-30644528	MCF-7	breast:	n/a
8	chr6:30644478-30644528	U87	brain:	n/a
9	chr6:30644478-30644528	GM12878	blood:	n/a
10	chr6:30644478-30644528	GM06990	blood:	n/a
11	chr6:30644478-30644528	HEEpiC	esophagus:	n/a
12	chr6:30644478-30644528	SK-N-SH	brain:	n/a
13	chr6:30644478-30644528	T-47D	breast:	n/a
14	chr6:30644478-30644528	AoSMC	blood vessel:	n/a
15	chr6:30644478-30644528	HCT-116	colon:	n/a
16	chr6:30644478-30644528	PrEC	prostate:	n/a
17	chr6:30644478-30644528	HNPCEpiC	eye:	n/a
18	chr6:30644478-30644528	GM12892	blood:	n/a
19	chr6:30644478-30644528	RPTEC	kidney:	n/a
20	chr6:30644478-30644528	HRCEpiC	kidney:	n/a
21	chr6:30644478-30644528	GM12891	blood:	n/a
22	chr6:30644478-30644528	HepG2	liver:	n/a
23	chr6:30644478-30644528	NH-A	brain:	n/a
24	chr6:30644478-30644528	SK-N-MC	brain:	n/a
25	chr6:30644478-30644528	HIPEpiC	eye:	n/a
26	chr6:30644478-30644528	PANC-1	pancreas:	n/a
27	chr6:30644478-30644528	AG04450	lung:	fetal
28	chr6:30644478-30644528	HMEC	breast:	n/a
29	chr6:30644478-30644528	A549	lung:	n/a
30	chr6:30644478-30644528	ProgFib	skin:	n/a
31	chr6:30644478-30644528	HEK293	kidney:	embryo
32	chr6:30644478-30644528	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:30644478-30644528	HUVEC	blood vessel:	n/a
34	chr6:30644478-30644528	Hela-S3	cervix:	n/a
35	chr6:30644478-30644528	Hepatocyte	liver:	n/a
36	chr6:30644478-30644528	Caco-2	colon:	n/a
37	chr6:30644478-30644528	NHDF-neo	bronchial:	n/a
38	chr6:30644478-30644528	SK-N-SH_RA	brain:	n/a
39	chr6:30644478-30644528	NB4	blood:	n/a
40	chr6:30644478-30644528	BJ	skin:	n/a
41	chr6:30644478-30644528	GM19239	blood:	n/a
42	chr6:30644478-30644528	AG10803	skin:	n/a
43	chr6:30644478-30644528	AG04449	skin:	fetal
44	chr6:30644478-30644528	PFSK-1	brain:	n/a
45	chr6:30644478-30644528	K562	blood:	n/a
46	chr6:30644478-30644528	NT2-D1	testis:	n/a
47	chr6:30644478-30644528	LNCaP	prostate:	n/a
48	chr6:30644478-30644528	MCF10A-Er-Src	breast:	n/a
49	chr6:30644478-30644528	HRE	kidney:	n/a
50	chr6:30644478-30644528	SAEC	small airway:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30643140..30646430-chr6:30646778..30649546,3	MCF-7	breast:
2	chr6:30642982..30645092-chr6:30648552..30650727,2	MCF-7	breast:
3	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
4	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
5	chr6:30639491..30642399-chr6:30642819..30647161,4	MCF-7	breast:
6	chr6:30642470..30648471-chr6:30697241..30700740,8	MCF-7	breast:
7	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
8	chr6:30643814..30650234-chr6:30705979..30710789,12	MCF-7	breast:
9	chr6:30582956..30585804-chr6:30643199..30647453,3	MCF-7	breast:

No data

Variant related genes	Relation type
DHX16	TF binding region
DHX16	CpG island
ENSG00000204568	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204560	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1079687	0.94[ASN][1000 genomes]
rs1109146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075015	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239886	0.88[ASN][1000 genomes]
rs2269702	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284172	0.82[EUR][1000 genomes]
rs2285321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394392	0.94[ASN][1000 genomes]
rs25497	0.82[EUR][1000 genomes]
rs28986465	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094090	0.86[ASN][1000 genomes]
rs3132595	0.94[ASN][1000 genomes]
rs3132608	0.94[ASN][1000 genomes]
rs55810373	0.82[EUR][1000 genomes]
rs59378621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61486053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733213	0.88[AFR][1000 genomes]
rs6900113	0.83[AFR][1000 genomes]
rs6924270	0.88[ASN][1000 genomes]
rs6929626	0.88[ASN][1000 genomes]
rs6929698	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6931293	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762626	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773711	0.89[AFR][1000 genomes]
rs9295901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295905	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295908	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295909	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461623	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461624	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461625	0.82[EUR][1000 genomes]
rs9468803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468807	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9468811	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468812	0.88[AFR][1000 genomes]
rs9468813	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468814	0.88[ASN][1000 genomes]
rs9468816	0.82[EUR][1000 genomes]
rs9468817	0.82[EUR][1000 genomes]
rs9500863	0.82[EUR][1000 genomes]
rs9500866	0.82[EUR][1000 genomes]
rs9500867	0.82[EUR][1000 genomes]
rs9501027	0.82[EUR][1000 genomes]
rs9501338	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9501481	0.88[ASN][1000 genomes]
rs9501482	0.88[ASN][1000 genomes]
rs9501483	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9501484	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30640800-30647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30640800-30649600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30641000-30647000	Weak transcription	Stomach Mucosa	stomach
4	chr6:30641000-30647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30641000-30650000	Weak transcription	Psoas Muscle	Psoas
6	chr6:30641200-30644600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:30641200-30645000	Weak transcription	Fetal Kidney	kidney
8	chr6:30641200-30646800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:30641200-30647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:30641400-30646600	Weak transcription	Fetal Brain Male	brain
11	chr6:30641800-30646800	Weak transcription	HepG2	liver
12	chr6:30643600-30644600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:30643600-30644600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr6:30643600-30644800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:30643600-30645000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:30643600-30645200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr6:30643600-30645200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:30643600-30645400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:30643600-30645600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:30643600-30645800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:30643600-30646000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:30643600-30646000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:30643600-30646000	Strong transcription	HUVEC	blood vessel
24	chr6:30643600-30646200	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr6:30643600-30646400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:30643600-30646400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:30643600-30646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:30643600-30646600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30643600-30646600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:30643600-30646600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:30643600-30646600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:30643600-30646600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:30643600-30646600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:30643600-30646600	Strong transcription	Fetal Thymus	thymus
35	chr6:30643600-30646600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:30643600-30646600	Strong transcription	HSMM	muscle
37	chr6:30643600-30646600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:30643600-30646600	Strong transcription	NHEK	skin
39	chr6:30643600-30646600	Strong transcription	NHLF	lung
40	chr6:30643600-30646600	Strong transcription	Osteobl	bone
41	chr6:30643600-30646800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:30643600-30646800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:30643600-30646800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:30643600-30646800	Strong transcription	Adipose Nuclei	Adipose
45	chr6:30643600-30646800	Strong transcription	Brain Germinal Matrix	brain
46	chr6:30643600-30646800	Strong transcription	NH-A	brain
47	chr6:30643600-30647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:30643600-30647000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:30643600-30647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:30643600-30647000	Strong transcription	Muscle Satellite Cultured Cells	--

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