Variant report

Variant	rs7310643
Chromosome Location	chr12:10518100-10518101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:10517443-10518113	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr12:10517455-10518254	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:10517788-10518192	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr12:10517469-10518122	ECC-1	luminal epithelium:	n/a	n/a
5	MAFK	chr12:10517487-10518231	IMR90	lung:	n/a	n/a
6	CTCF	chr12:10518040-10518190	GM12873	blood:	n/a	n/a
7	CEBPB	chr12:10517435-10518128	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:10516740-10518137	HCT-116	colon:	n/a	n/a
9	CHD2	chr12:10517449-10518385	Hela-S3	cervix:	n/a	n/a
10	FOXA1	chr12:10518052-10518417	T-47D	breast:	n/a	n/a
11	MAX	chr12:10517158-10518411	Hela-S3	cervix:	n/a	n/a
12	ZNF143	chr12:10517458-10518184	K562	blood:	n/a	n/a
13	TCF7L2	chr12:10517374-10518553	PANC-1	pancreas:	n/a	n/a
14	IRF1	chr12:10515959-10518392	K562	blood:	n/a	chr12:10517695-10517716
15	RAD21	chr12:10517561-10518135	Hela-S3	cervix:	n/a	n/a
16	MAX	chr12:10516789-10518108	A549	lung:	n/a	n/a
17	SP1	chr12:10517485-10518158	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr12:10517777-10518253	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr12:10516387-10518166	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:10516590-10518268	SK-N-MC	brain:	n/a	n/a
21	TCF7L2	chr12:10517720-10518393	HEK293	kidney:	n/a	n/a
22	ZNF263	chr12:10516212-10518416	HEK293-T-REx	kidney:	n/a	n/a
23	MXI1	chr12:10517085-10518105	Hela-S3	cervix:	n/a	n/a
24	ZNF143	chr12:10517458-10518206	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:10517413-10518280	HCT-116	colon:	n/a	n/a
26	ATF1	chr12:10518006-10518279	K562	blood:	n/a	n/a
27	TBP	chr12:10516790-10518233	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr12:10518020-10518170	A549	lung:	n/a	n/a
29	IRF1	chr12:10517466-10518123	K562	blood:	n/a	chr12:10517695-10517716
30	POLR2A	chr12:10516071-10518125	GM12891	blood:	n/a	n/a
31	SIN3A	chr12:10517002-10518206	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:10516177-10518391	GM12878	blood:	n/a	n/a
33	WRNIP1	chr12:10516761-10518577	GM12878	blood:	n/a	n/a
34	FOSL1	chr12:10517894-10518229	H1-hESC	embryonic stem cell:	n/a	n/a
35	GATA3	chr12:10518038-10518378	T-47D	breast:	n/a	n/a
36	GTF2F1	chr12:10516680-10518433	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr12:10517590-10518372	Hela-S3	cervix:	n/a	n/a
38	MTA3	chr12:10515355-10518224	GM12878	blood:	n/a	n/a
39	TCF7L2	chr12:10516798-10518558	HCT-116	colon:	n/a	n/a
40	MYC	chr12:10516709-10518172	K562	blood:	n/a	n/a
41	RUNX3	chr12:10516152-10518112	GM12878	blood:	n/a	n/a
42	TBP	chr12:10516762-10518115	K562	blood:	n/a	n/a
43	SMC3	chr12:10516780-10518363	Hela-S3	cervix:	n/a	n/a
44	FOSL1	chr12:10517852-10518203	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr12:10516934-10518143	NB4	blood:	n/a	n/a
46	RELA	chr12:10515160-10518228	GM12891	blood:	n/a	n/a
47	ESR1	chr12:10517595-10518187	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr12:10517667-10518134	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr12:10517388-10518215	A549	lung:	n/a	n/a
50	ARID3A	chr12:10517306-10518105	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000256155	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1049172	0.86[CHD][hapmap]
rs10743887	0.82[ASN][1000 genomes]
rs10743888	0.85[EUR][1000 genomes]
rs10743889	0.84[EUR][1000 genomes]
rs10772267	0.82[JPT][hapmap]
rs1351113	0.86[CHD][hapmap]
rs1382264	0.86[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs1382265	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1478309	0.86[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs1478310	0.86[EUR][1000 genomes]
rs1600127	0.88[EUR][1000 genomes]
rs2045876	0.86[EUR][1000 genomes]
rs2100923	0.84[EUR][1000 genomes]
rs2126888	0.87[EUR][1000 genomes]
rs2126889	0.88[EUR][1000 genomes]
rs2246809	0.86[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2255336	0.86[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs2255353	0.88[EUR][1000 genomes]
rs2255364	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs2417734	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs2617151	0.86[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs2617152	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs2617156	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2617157	0.88[EUR][1000 genomes]
rs2617169	0.84[EUR][1000 genomes]
rs2617172	0.84[EUR][1000 genomes]
rs2733840	0.86[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs2733845	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2733847	0.88[EUR][1000 genomes]
rs2733848	0.82[EUR][1000 genomes]
rs2733853	0.83[EUR][1000 genomes]
rs2734414	0.81[TSI][hapmap]
rs2734561	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2927561	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs4415856	1.00[JPT][hapmap]
rs4764430	0.86[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488285	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139147	0.82[ASN][1000 genomes]
rs7301582	1.00[JPT][hapmap]
rs7307721	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7397310	0.85[EUR][1000 genomes]
rs7956385	0.82[ASN][1000 genomes]
rs7957681	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7958658	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959328	0.82[ASN][1000 genomes]
rs7964772	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7965744	0.98[ASN][1000 genomes]
rs7980379	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7310643	KLRC4	cis	lesional skin	skin_eQTL
rs7310643	KLRK1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10515200-10518600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr12:10515400-10518600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:10515600-10518200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:10515600-10518200	Active TSS	Brain Anterior Caudate	brain
5	chr12:10515800-10518200	Active TSS	Fetal Kidney	kidney
6	chr12:10516000-10518200	Active TSS	Colon Smooth Muscle	Colon
7	chr12:10516000-10518200	Active TSS	Fetal Stomach	stomach
8	chr12:10516000-10518400	Active TSS	K562	blood
9	chr12:10516200-10518400	Active TSS	Ovary	ovary
10	chr12:10516200-10518800	Flanking Active TSS	HUVEC	blood vessel
11	chr12:10516400-10518200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:10516400-10518200	Active TSS	Esophagus	oesophagus
13	chr12:10516400-10518200	Active TSS	Psoas Muscle	Psoas
14	chr12:10516400-10518200	Active TSS	Right Ventricle	heart
15	chr12:10516400-10518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:10516400-10518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:10516400-10519200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:10516600-10518200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:10516600-10518200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:10516600-10518200	Active TSS	Brain Hippocampus Middle	brain
21	chr12:10516600-10518200	Active TSS	Fetal Intestine Large	intestine
22	chr12:10516600-10518200	Active TSS	Left Ventricle	heart
23	chr12:10516600-10518200	Active TSS	Right Atrium	heart
24	chr12:10516600-10518200	Active TSS	NHDF-Ad	bronchial
25	chr12:10516600-10518600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:10516600-10518800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:10516600-10518800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:10516800-10518200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:10516800-10518200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:10516800-10518200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:10516800-10518200	Active TSS	Brain Germinal Matrix	brain
32	chr12:10516800-10518200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:10516800-10518400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:10516800-10518400	Active TSS	Aorta	Aorta
35	chr12:10516800-10518400	Active TSS	Brain Angular Gyrus	brain
36	chr12:10516800-10518600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr12:10516800-10518600	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:10516800-10518600	Flanking Active TSS	Dnd41	blood
39	chr12:10517000-10518200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:10517000-10518200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:10517000-10518200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:10517000-10518200	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:10517000-10518200	Active TSS	A549	lung
44	chr12:10517000-10518600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:10517200-10518200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:10517200-10518200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:10517200-10518200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:10517200-10518200	Active TSS	Fetal Heart	heart
49	chr12:10517200-10518200	Active TSS	Fetal Intestine Small	intestine
50	chr12:10517200-10518200	Active TSS	Skeletal Muscle Male	skeletal muscle

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