Variant report

Variant	rs3935720
Chromosome Location	chr7:100742551-100742552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100742551..100745856-chr7:100780456..100782799,3	MCF-7	breast:
2	chr7:100741030..100743914-chr7:100780572..100782381,3	K562	blood:
3	chr7:100739178..100743225-chr7:100773876..100776882,3	K562	blood:
4	chr7:100742030..100745253-chr7:100746544..100749068,3	MCF-7	breast:
5	chr7:100741330..100743492-chr7:100880383..100882636,2	MCF-7	breast:
6	chr7:100740298..100743618-chr7:100768403..100771294,5	MCF-7	breast:
7	chr7:100738686..100741572-chr7:100742111..100744003,4	MCF-7	breast:
8	chr7:100740788..100742697-chr7:100783160..100785738,2	MCF-7	breast:
9	chr7:100739826..100743076-chr7:100805313..100808615,3	MCF-7	breast:
10	chr7:100741837..100746865-chr7:100749791..100753773,5	MCF-7	breast:
11	chr7:100741507..100743688-chr7:100752212..100754188,2	K562	blood:
12	chr7:100742417..100744722-chr7:100805972..100808524,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106404	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000106366	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11542349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13229423	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4489253	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6942824	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv5874	chr7:100734048-100744472	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100729400-100742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:100729400-100742600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:100729400-100742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:100729400-100742800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:100729600-100742800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:100730400-100742600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:100730600-100742800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:100730600-100742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:100730800-100743200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:100731200-100742800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:100732400-100742800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:100732400-100743000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:100732600-100742600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:100732800-100742800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:100733000-100742600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:100733000-100743400	Weak transcription	Right Atrium	heart
17	chr7:100733000-100743400	Weak transcription	GM12878-XiMat	blood
18	chr7:100733000-100743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:100733000-100743600	Weak transcription	Gastric	stomach
20	chr7:100733400-100742600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:100733400-100742800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:100733400-100743200	Weak transcription	Pancreas	Pancrea
23	chr7:100733400-100743600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:100733400-100743600	Weak transcription	Esophagus	oesophagus
25	chr7:100733400-100743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:100733600-100743000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
28	chr7:100734600-100742800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:100734600-100743000	Weak transcription	Lung	lung
30	chr7:100734600-100743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:100734600-100743600	Weak transcription	Colonic Mucosa	Colon
32	chr7:100734800-100742600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:100734800-100743200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:100734800-100743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:100734800-100743400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:100734800-100743600	Weak transcription	Fetal Lung	lung
37	chr7:100735000-100742600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:100735000-100743000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:100735000-100743600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100735000-100743800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:100735200-100742600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:100735200-100742800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:100735200-100742800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:100735600-100742800	Weak transcription	Spleen	Spleen
45	chr7:100735600-100743400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:100736200-100745000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:100737800-100743200	Enhancers	K562	blood
48	chr7:100738000-100745600	Enhancers	NHDF-Ad	bronchial
49	chr7:100738200-100742600	Weak transcription	HSMMtube	muscle
50	chr7:100738200-100743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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