Variant report

Variant	rs836185
Chromosome Location	chr12:50450828-50450829
allele	C/T
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	CTCF	chr12:50450823-50451151	GM19239	blood:	n/a	chr12:50451041-50451050 chr12:50451060-50451073
2	MAX	chr12:50450820-50451057	HepG2	liver:	n/a	chr12:50450863-50450873
3	CTCF	chr12:50450826-50450879	GM12892	blood:	n/a	n/a
4	NRF1	chr12:50450793-50451689	SK-N-SH	brain:	n/a	chr12:50451353-50451367 chr12:50451356-50451370 chr12:50451356-50451365 chr12:50451356-50451367 chr12:50451309-50451318
5	MXI1	chr12:50450578-50451858	IMR90	lung:	n/a	n/a
6	RCOR1	chr12:50450808-50450943	K562	blood:	n/a	n/a
7	CTBP2	chr12:50449663-50451559	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr12:50450694-50451557	NB4	blood:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
9	MAX	chr12:50450478-50451662	MCF-7	breast:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
10	CTCF	chr12:50450792-50450858	Lung_OC	lung:	n/a	n/a
11	CTCF	chr12:50449519-50451803	A549	lung:	n/a	chr12:50449938-50449956 chr12:50451041-50451050 chr12:50451664-50451677 chr12:50449933-50449954 chr12:50451252-50451265 chr12:50451667-50451680 chr12:50451391-50451404 chr12:50451060-50451073
12	MAX	chr12:50450488-50451529	H1-hESC	embryonic stem cell:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
13	CTCF	chr12:50450820-50450970	HCM	heart:	n/a	n/a
14	BHLHE40	chr12:50450744-50451080	K562	blood:	n/a	n/a
15	MAX	chr12:50450802-50450837	K562	blood:	n/a	n/a
16	MXI1	chr12:50450590-50450968	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:50450794-50451635	H1-neurons	neurons:	n/a	n/a
18	MAX	chr12:50450533-50451609	H1-hESC	embryonic stem cell:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
19	MAX	chr12:50450534-50451748	A549	lung:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
20	POLR2A	chr12:50450697-50451673	H1-neurons	neurons:	n/a	n/a
21	PAX5	chr12:50450766-50451139	GM12878	blood:	n/a	chr12:50450979-50450998 chr12:50450980-50450998 chr12:50450982-50450999
22	SIN3A	chr12:50450517-50451744	H1-hESC	embryonic stem cell:	n/a	chr12:50451628-50451641
23	MAX	chr12:50450546-50451764	K562	blood:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
24	REST	chr12:50450613-50451808	H1-neurons	neurons:	n/a	n/a
25	MYC	chr12:50450794-50451340	K562	blood:	n/a	chr12:50450863-50450873
26	CTCF	chr12:50450800-50450950	AG10803	skin:	n/a	n/a
27	MXI1	chr12:50449506-50452883	SK-N-SH	brain:	n/a	n/a
28	SMC3	chr12:50449323-50451865	SK-N-SH	brain:	n/a	chr12:50449940-50449954
29	MAX	chr12:50450628-50451535	NB4	blood:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
30	CTCF	chr12:50449287-50452309	SK-N-SH	brain:	n/a	chr12:50449938-50449956 chr12:50451041-50451050 chr12:50451664-50451677 chr12:50449933-50449954 chr12:50451252-50451265 chr12:50451667-50451680 chr12:50451391-50451404 chr12:50451060-50451073
31	MTA3	chr12:50450762-50451135	GM12878	blood:	n/a	n/a
32	MAZ	chr12:50450656-50451928	IMR90	lung:	n/a	chr12:50451390-50451400
33	ZNF263	chr12:50449463-50451684	HEK293-T-REx	kidney:	n/a	chr12:50450637-50450646 chr12:50450344-50450353
34	MXI1	chr12:50450817-50451117	Hela-S3	cervix:	n/a	n/a
35	MAX	chr12:50450528-50451565	ECC-1	luminal epithelium:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
36	CTCF	chr12:50450800-50450950	GM12875	blood:	n/a	n/a
37	MAX	chr12:50450672-50450924	K562	blood:	n/a	chr12:50450863-50450873
38	CTCF	chr12:50450800-50450950	GM12873	blood:	n/a	n/a
39	MAX	chr12:50450630-50451197	H1-hESC	embryonic stem cell:	n/a	chr12:50450863-50450873
40	PAX5	chr12:50450796-50451229	GM12878	blood:	n/a	chr12:50450979-50450998 chr12:50450980-50450998 chr12:50450982-50450999
41	USF2	chr12:50450790-50450867	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr12:50450695-50451600	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr12:50450800-50450950	GM12864	blood:	n/a	n/a
44	MAX	chr12:50450783-50451517	Hela-S3	cervix:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
45	PAX5	chr12:50450762-50451320	GM12878	blood:	n/a	chr12:50450979-50450998 chr12:50450980-50450998 chr12:50450982-50450999
46	MAX	chr12:50450487-50451793	ECC-1	luminal epithelium:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
47	MAX	chr12:50450637-50451614	A549	lung:	n/a	chr12:50451390-50451400 chr12:50450863-50450873
48	ZBTB7A	chr12:50450638-50452129	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50450302..50454051-chr12:50467339..50469182,3	K562	blood:
2	chr12:50260849..50261466-chr12:50450404..50451185,2	K562	blood:
3	chr12:50415480..50421111-chr12:50448192..50451032,5	K562	blood:
4	chr12:50358701..50362803-chr12:50449341..50451682,4	MCF-7	breast:
5	chr12:50417982..50420791-chr12:50450221..50452010,2	MCF-7	breast:
6	chr12:50360514..50361964-chr12:50449435..50451127,13	K562	blood:
7	chr12:50449658..50451557-chr12:50467280..50470251,2	MCF-7	breast:
8	chr12:50360496..50362709-chr12:50448964..50450845,14	MCF-7	breast:
9	chr12:50449562..50451220-chr12:50537075..50538581,2	K562	blood:

Variant related genes	Relation type
ASIC1	TF binding region
ENSG00000139624	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000086159	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs376184	0.86[ASN][1000 genomes]
rs386469	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs393848	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs404751	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs439171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs450423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs484951	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs590460	0.91[ASN][1000 genomes]
rs613066	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627869	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627887	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs653576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706789	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706794	0.86[ASN][1000 genomes]
rs835591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs835593	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs835594	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs836184	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836186	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844359	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs860699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer 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 target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases
8	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS 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 miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50449600-50451000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
2	chr12:50449600-50451000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr12:50449600-50451000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr12:50449600-50451000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:50449600-50451000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr12:50449600-50451000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:50449600-50451000	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:50449600-50451000	Enhancers	Gastric	stomach
9	chr12:50449600-50451200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr12:50449600-50451200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr12:50449600-50451200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr12:50449600-50451200	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr12:50449600-50452200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:50449800-50451000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:50449800-50451000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:50449800-50451000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr12:50449800-50451400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:50449800-50452000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr12:50450200-50451400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:50450400-50451000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr12:50450400-50451000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:50450400-50451000	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr12:50450400-50451000	Bivalent Enhancer	Esophagus	oesophagus
24	chr12:50450400-50451000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
25	chr12:50450400-50451200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:50450400-50451200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr12:50450400-50451200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:50450400-50451200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr12:50450400-50451200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:50450600-50451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr12:50450600-50451000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:50450600-50451000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
43	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
44	chr12:50450600-50451000	Bivalent Enhancer	Spleen	Spleen
45	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	A549	lung
46	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
47	chr12:50450600-50451000	Flanking Bivalent TSS/Enh	NHLF	lung
48	chr12:50450600-50451200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr12:50450600-50451200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:50450600-50451200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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