Variant report

Variant	rs73346924
Chromosome Location	chr7:6625136-6625137
allele	A/G
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	chr7:6625121-6625137	Kidney_OC	kidney:	n/a	n/a
2	POLR2A	chr7:6624537-6625676	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6621445..6626175-chr7:6626576..6631235,7	MCF-7	breast:
2	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000136247	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000146576	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10232693	0.86[EUR][1000 genomes]
rs10238385	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10257247	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11971880	0.86[ASN][1000 genomes]
rs11978762	0.89[ASN][1000 genomes]
rs17199024	1.00[ASN][1000 genomes]
rs4073384	0.93[ASN][1000 genomes]
rs4078081	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6955483	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957934	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73059373	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7800401	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
4	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
2	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
5	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
6	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6618200-6626800	Strong transcription	Brain Hippocampus Middle	brain
8	chr7:6618200-6628800	Weak transcription	Fetal Brain Male	brain
9	chr7:6618200-6629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:6618200-6629000	Strong transcription	Brain Cingulate Gyrus	brain
11	chr7:6618200-6629200	Strong transcription	Fetal Intestine Small	intestine
12	chr7:6618400-6628800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:6618400-6628800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:6618400-6629000	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:6618400-6629000	Strong transcription	Fetal Thymus	thymus
16	chr7:6618600-6629000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:6618600-6629000	Strong transcription	Fetal Stomach	stomach
18	chr7:6618800-6628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:6618800-6628600	Strong transcription	Liver	Liver
20	chr7:6618800-6629000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:6619000-6625400	Strong transcription	Thymus	Thymus
22	chr7:6619000-6625600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:6619000-6626200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:6619000-6626800	Strong transcription	Brain Anterior Caudate	brain
25	chr7:6619000-6627000	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr7:6619000-6628600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:6619200-6628800	Strong transcription	Fetal Intestine Large	intestine
28	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:6619600-6625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:6619800-6626200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr7:6619800-6626400	Strong transcription	Brain Germinal Matrix	brain
34	chr7:6619800-6627400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:6619800-6628600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:6619800-6628600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:6619800-6628800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:6619800-6628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:6619800-6628800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:6620000-6625400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:6620000-6625400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:6620000-6625400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:6620000-6625400	Strong transcription	NHLF	lung
45	chr7:6620000-6625600	Strong transcription	Spleen	Spleen
46	chr7:6620000-6626200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:6620000-6626400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:6620000-6626600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:6620000-6627200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:6620000-6627400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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