Variant report

Variant	rs7788422
Chromosome Location	chr7:2694742-2694743
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	POLR2A	chr7:2693372-2694942	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:2694485-2698209	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:2688401..2693188-chr7:2694438..2699212,7	MCF-7	breast:
2	chr7:2693005..2695193-chr7:2698344..2701338,2	K562	blood:
3	chr7:2686998..2689592-chr7:2694148..2695974,3	MCF-7	breast:

Variant related genes	Relation type
TTYH3	TF binding region
ENSG00000136295	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6974983	1.00[AMR][1000 genomes]
rs6976160	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017953	chr7:2261319-2706145	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
2	nsv538645	chr7:2261319-2706145	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv887286	chr7:2457709-2705266	Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv887300	chr7:2611434-2707822	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1027694	chr7:2625412-2709241	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv887302	chr7:2640141-2734713	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv517403	chr7:2640141-2740015	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv518027	chr7:2643607-2753667	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv887303	chr7:2649704-2715311	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464256	chr7:2652630-2695617	Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv605863	chr7:2652630-2695617	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887304	chr7:2653792-2727337	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1015695	chr7:2654768-2754025	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv538651	chr7:2654768-2754025	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv605864	chr7:2659951-2745124	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	nsv471238	chr7:2662818-2709214	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv605865	chr7:2662818-2748487	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
19	nsv887305	chr7:2663092-2701826	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv887306	chr7:2663092-2717623	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	nsv887307	chr7:2664214-2727337	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
22	nsv887308	chr7:2664214-2734713	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
23	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	esv1821498	chr7:2667321-2706085	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
25	nsv605866	chr7:2668045-2698103	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
26	nsv887310	chr7:2669587-2734713	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
27	nsv464257	chr7:2669587-2745124	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
28	nsv605867	chr7:2669587-2745124	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
29	nsv605868	chr7:2672065-2698634	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
30	nsv605869	chr7:2672972-2752487	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
31	nsv887311	chr7:2673066-2734713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
32	nsv605870	chr7:2679449-2709214	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2673600-2705600	Weak transcription	Small Intestine	intestine
2	chr7:2682000-2698600	Weak transcription	NHDF-Ad	bronchial
3	chr7:2685200-2695800	Weak transcription	Left Ventricle	heart
4	chr7:2685200-2699800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:2685400-2696000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:2685400-2700800	Strong transcription	Fetal Brain Female	brain
7	chr7:2685400-2702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:2685600-2695000	Weak transcription	GM12878-XiMat	blood
9	chr7:2685600-2699200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:2685600-2700200	Strong transcription	Fetal Stomach	stomach
11	chr7:2685600-2701400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:2685600-2703400	Strong transcription	Dnd41	blood
13	chr7:2685600-2703800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:2685600-2704800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:2685800-2704400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:2686000-2699400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:2686000-2702400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:2686200-2700200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:2686200-2701200	Strong transcription	Brain Germinal Matrix	brain
20	chr7:2686400-2699200	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:2686400-2703800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:2686600-2696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:2686600-2700400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:2686600-2703800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:2687000-2702200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:2687000-2702800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:2687200-2702000	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr7:2687200-2703400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:2687400-2702600	Weak transcription	Right Atrium	heart
30	chr7:2687800-2699800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:2688200-2701600	Weak transcription	Brain Substantia Nigra	brain
32	chr7:2688200-2702600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:2688400-2696200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:2688400-2702400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:2688600-2695800	Weak transcription	Ovary	ovary
36	chr7:2689000-2703000	Strong transcription	Fetal Intestine Small	intestine
37	chr7:2689000-2705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:2689200-2696200	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:2689200-2697000	Strong transcription	Fetal Intestine Large	intestine
40	chr7:2689200-2698000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:2689600-2700800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:2689800-2694800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:2689800-2705200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:2690000-2695400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:2690000-2696200	Weak transcription	Brain Anterior Caudate	brain
46	chr7:2690000-2701400	Weak transcription	Esophagus	oesophagus
47	chr7:2690400-2703400	Weak transcription	NH-A	brain
48	chr7:2690800-2695800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:2691000-2697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:2691200-2698400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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