Variant report

Variant	rs6467202
Chromosome Location	chr7:128308386-128308387
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	MAX	chr7:128308353-128308706	K562	blood:	n/a	chr7:128308509-128308522 chr7:128308510-128308521 chr7:128308511-128308521
2	POLR2A	chr7:128308384-128308707	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128306825..128310882-chr7:128311566..128316462,4	MCF-7	breast:

Variant related genes	Relation type
FAM71F2	TF binding region
ENSG00000205085	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 46 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1003241	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10225988	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10227728	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10237880	0.84[ASN][1000 genomes]
rs10276417	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954193	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs1109552	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11769769	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs11975784	0.82[ASN][1000 genomes]
rs11977129	0.88[ASN][1000 genomes]
rs11978608	0.84[ASN][1000 genomes]
rs12670258	0.88[ASN][1000 genomes]
rs12670271	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12670823	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12671767	0.88[ASN][1000 genomes]
rs12672518	0.86[ASN][1000 genomes]
rs12672529	0.88[ASN][1000 genomes]
rs12672576	0.88[ASN][1000 genomes]
rs12672608	0.86[ASN][1000 genomes]
rs12673998	0.80[ASN][1000 genomes]
rs12674125	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12706856	0.91[ASN][1000 genomes]
rs12706857	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1450874	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs17169024	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17169357	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs17169368	0.86[ASN][1000 genomes]
rs17169609	0.82[ASN][1000 genomes]
rs17533628	0.88[ASN][1000 genomes]
rs2290229	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2402923	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28505422	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4554406	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4728128	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4728130	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4731480	0.81[ASN][1000 genomes]
rs4731484	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4731492	0.88[ASN][1000 genomes]
rs4731493	0.88[ASN][1000 genomes]
rs4731494	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731496	0.88[ASN][1000 genomes]
rs4731497	0.86[ASN][1000 genomes]
rs4731501	0.85[ASN][1000 genomes]
rs4731503	0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4731504	0.82[ASN][1000 genomes]
rs4731506	0.82[ASN][1000 genomes]
rs55978216	0.88[ASN][1000 genomes]
rs56033435	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56329625	0.82[ASN][1000 genomes]
rs56916616	0.88[ASN][1000 genomes]
rs56946745	0.80[ASN][1000 genomes]
rs57370656	0.80[ASN][1000 genomes]
rs57653865	0.82[ASN][1000 genomes]
rs57886720	0.82[ASN][1000 genomes]
rs61318942	0.88[ASN][1000 genomes]
rs61544090	0.82[ASN][1000 genomes]
rs61738927	0.86[ASN][1000 genomes]
rs62481890	0.80[ASN][1000 genomes]
rs62481892	0.80[ASN][1000 genomes]
rs62481895	0.80[ASN][1000 genomes]
rs62481897	0.80[ASN][1000 genomes]
rs62481923	0.88[ASN][1000 genomes]
rs62481938	0.87[ASN][1000 genomes]
rs62481939	0.88[ASN][1000 genomes]
rs62481940	0.88[ASN][1000 genomes]
rs62483297	0.81[ASN][1000 genomes]
rs62483364	0.82[ASN][1000 genomes]
rs62483366	0.82[ASN][1000 genomes]
rs62483368	0.82[ASN][1000 genomes]
rs6467203	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467204	0.86[ASN][1000 genomes]
rs6467206	0.86[ASN][1000 genomes]
rs6467209	0.85[ASN][1000 genomes]
rs6467210	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs67602452	0.85[ASN][1000 genomes]
rs6945126	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6945532	0.88[ASN][1000 genomes]
rs6955960	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958788	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6969462	0.88[ASN][1000 genomes]
rs6969554	0.82[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6973969	0.88[ASN][1000 genomes]
rs6974153	0.89[ASN][1000 genomes]
rs6975194	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978360	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978887	0.88[ASN][1000 genomes]
rs6979304	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979575	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73236020	0.86[ASN][1000 genomes]
rs73236037	0.86[ASN][1000 genomes]
rs7385676	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7781695	0.86[ASN][1000 genomes]
rs7793136	0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs7795558	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7797359	0.90[ASN][1000 genomes]
rs7797745	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7802233	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7804825	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7807293	0.85[ASN][1000 genomes]
rs9690564	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9770238	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3326133	chr7:128308341-128310889	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:46)

SNP	Gene	Cis/trans	Tissue	Source
rs6467202	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs6467202	RP11-274B21.3	cis	Artery Tibial	GTEx
rs6467202	RP11-274B21.3	cis	Thyroid	GTEx
rs6467202	RP11-274B21.4	cis	Whole Blood	GTEx
rs6467202	RP11-274B21.2	cis	Thyroid	GTEx
rs6467202	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs6467202	CPA4	cis	cerebellum	SCAN
rs6467202	CICP14	cis	Muscle Skeletal	GTEx
rs6467202	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs6467202	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs6467202	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs6467202	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs6467202	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6467202	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs6467202	RP11-274B21.1	cis	Whole Blood	GTEx
rs6467202	CICP14	cis	Thyroid	GTEx
rs6467202	CICP14	cis	lung	GTEx
rs6467202	RP11-274B21.1	cis	Artery Aorta	GTEx
rs6467202	RP11-274B21.4	cis	Thyroid	GTEx
rs6467202	RP11-274B21.3	cis	lung	GTEx
rs6467202	RP11-274B21.1	cis	Esophagus Muscularis	GTEx
rs6467202	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs6467202	RP11-274B21.2	cis	Whole Blood	GTEx
rs6467202	RP11-274B21.2	cis	lung	GTEx
rs6467202	RP11-274B21.1	cis	Thyroid	GTEx
rs6467202	RP11-274B21.2	cis	Artery Tibial	GTEx
rs6467202	RP11-274B21.4	cis	Artery Aorta	GTEx
rs6467202	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs6467202	RP11-274B21.4	cis	Artery Tibial	GTEx
rs6467202	METTL2B	cis	parietal	SCAN
rs6467202	RP11-274B21.3	cis	Adipose Subcutaneous	GTEx
rs6467202	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs6467202	RP11-274B21.1	cis	lung	GTEx
rs6467202	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs6467202	RP11-274B21.2	cis	Stomach	GTEx
rs6467202	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs6467202	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs6467202	RP11-274B21.4	cis	lung	GTEx
rs6467202	RP11-274B21.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6467202	RP11-274B21.4	cis	Stomach	GTEx
rs6467202	RP11-274B21.1	cis	Artery Tibial	GTEx
rs6467202	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs6467202	CICP14	cis	Artery Tibial	GTEx
rs6467202	CICP14	cis	Adipose Subcutaneous	GTEx
rs6467202	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs6467202	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
13	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
14	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
17	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
18	chr7:128301800-128310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:128302000-128308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:128302400-128312000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
26	chr7:128302400-128337200	Weak transcription	Gastric	stomach
27	chr7:128302600-128310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:128302600-128312800	Weak transcription	Fetal Stomach	stomach
29	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
31	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:128303000-128312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:128303600-128319400	Weak transcription	Fetal Brain Female	brain
34	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
35	chr7:128305400-128310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:128305400-128317600	Weak transcription	Osteobl	bone
37	chr7:128305800-128309600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:128305800-128311800	Weak transcription	HUVEC	blood vessel
39	chr7:128307200-128313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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