Variant report

Variant	rs6956305
Chromosome Location	chr7:99241310-99241311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:99241237-99241343	K562	blood:	n/a	n/a
2	RAD21	chr7:99241198-99241359	HepG2	liver:	n/a	n/a
3	CTCF	chr7:99241216-99241372	K562	blood:	n/a	n/a
4	SMC3	chr7:99241226-99241373	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99239613..99241367-chr7:99261000..99262949,2	K562	blood:
2	chr7:99239459..99241379-chr7:99243980..99245773,2	K562	blood:
3	chr7:99215097..99218324-chr7:99240353..99243377,3	MCF-7	breast:
4	chr7:99228346..99230589-chr7:99239970..99242108,2	K562	blood:
5	chr7:99235614..99237578-chr7:99239323..99241675,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224448	TF binding region
ENSG00000106258	Chromatin interaction
ENSG00000224448	Chromatin interaction
ENSG00000197037	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11734	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972210	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17161726	0.89[ASN][1000 genomes]
rs17161937	1.00[TSI][hapmap]
rs17854665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]
rs2003499	0.84[ASN][1000 genomes]
rs2023548	1.00[TSI][hapmap]
rs2293256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2404487	0.89[ASN][1000 genomes]
rs2404488	0.89[ASN][1000 genomes]
rs28365067	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs34943973	0.89[ASN][1000 genomes]
rs3528	0.89[ASN][1000 genomes]
rs3823813	0.82[ASN][1000 genomes]
rs41258334	1.00[ASN][1000 genomes]
rs41279866	0.81[ASN][1000 genomes]
rs45441991	0.82[ASN][1000 genomes]
rs45448997	0.89[ASN][1000 genomes]
rs45451992	0.89[ASN][1000 genomes]
rs45461000	0.89[ASN][1000 genomes]
rs45492501	0.82[ASN][1000 genomes]
rs45527841	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs45529541	0.82[ASN][1000 genomes]
rs45532337	0.81[ASN][1000 genomes]
rs45555335	0.82[ASN][1000 genomes]
rs45592335	0.82[ASN][1000 genomes]
rs45593341	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55830753	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	0.82[ASN][1000 genomes]
rs55942267	0.89[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57830676	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59240302	0.94[ASN][1000 genomes]
rs59574285	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59672032	0.89[ASN][1000 genomes]
rs6958669	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6974831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6976017	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397447	0.89[ASN][1000 genomes]
rs73397481	0.89[ASN][1000 genomes]
rs73397499	0.89[ASN][1000 genomes]
rs73401507	0.89[ASN][1000 genomes]
rs73401510	0.89[ASN][1000 genomes]
rs73401516	0.89[ASN][1000 genomes]
rs73403247	0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403290	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73405247	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711280	0.89[ASN][1000 genomes]
rs73711293	0.94[ASN][1000 genomes]
rs73711294	0.94[ASN][1000 genomes]
rs73713507	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713531	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713594	0.81[ASN][1000 genomes]
rs73713595	0.81[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[ASN][1000 genomes]
rs7806754	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs952319	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99224000-99241800	Weak transcription	HSMMtube	muscle
2	chr7:99225400-99243000	Weak transcription	Fetal Brain Male	brain
3	chr7:99225800-99241800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:99228200-99244200	Weak transcription	Psoas Muscle	Psoas
5	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:99228400-99258800	Weak transcription	Ovary	ovary
7	chr7:99228800-99249000	Weak transcription	Small Intestine	intestine
8	chr7:99229200-99241600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:99229200-99242000	Weak transcription	NHDF-Ad	bronchial
10	chr7:99229200-99243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:99229400-99257400	Weak transcription	Fetal Lung	lung
14	chr7:99229400-99257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:99229800-99255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:99229800-99257200	Weak transcription	Esophagus	oesophagus
17	chr7:99229800-99257600	Weak transcription	Pancreas	Pancrea
18	chr7:99229800-99260200	Weak transcription	Left Ventricle	heart
19	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:99230200-99243000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:99230200-99257200	Weak transcription	Gastric	stomach
22	chr7:99230400-99241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:99230400-99243800	Weak transcription	NHLF	lung
24	chr7:99230400-99249000	Weak transcription	Colonic Mucosa	Colon
25	chr7:99230400-99257600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:99230600-99243400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:99230800-99241600	Weak transcription	Liver	Liver
29	chr7:99230800-99243200	Weak transcription	Thymus	Thymus
30	chr7:99230800-99258000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:99231400-99248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:99231600-99241400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:99231600-99252400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:99231800-99242600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:99231800-99243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:99231800-99245000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:99231800-99246600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:99231800-99247400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:99231800-99247800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:99231800-99250000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:99231800-99258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:99231800-99258000	Weak transcription	Brain Substantia Nigra	brain
43	chr7:99231800-99260200	Weak transcription	K562	blood
44	chr7:99231800-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:99231800-99268000	Weak transcription	Brain Anterior Caudate	brain
46	chr7:99231800-99268600	Weak transcription	HepG2	liver
47	chr7:99232000-99241600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:99232000-99242000	Weak transcription	GM12878-XiMat	blood
49	chr7:99232000-99244000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:99232000-99245400	Weak transcription	Rectal Mucosa Donor 31	rectum

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