Variant report

Variant	rs138600432
Chromosome Location	chr7:8106127-8106128
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	CTCF	chr7:8106080-8106230	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8106017..8108332-chr7:8110111..8112350,2	K562	blood:

Variant related genes	Relation type
GLCCI1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv519058	chr7:8094604-8115794	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv1009766	chr7:8106112-8134286	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
7	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
8	chr7:8075000-8125800	Weak transcription	Lung	lung
9	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
13	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
14	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:8077200-8106800	Weak transcription	Fetal Heart	heart
16	chr7:8085200-8109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:8085200-8128400	Weak transcription	Small Intestine	intestine
18	chr7:8088600-8108400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:8088600-8108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:8091400-8127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:8092000-8108600	Weak transcription	Right Ventricle	heart
22	chr7:8092400-8108600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:8092600-8108600	Weak transcription	Right Atrium	heart
24	chr7:8094000-8127800	Weak transcription	HSMM	muscle
25	chr7:8095200-8108600	Weak transcription	Left Ventricle	heart
26	chr7:8095200-8125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:8095400-8129600	Weak transcription	Gastric	stomach
28	chr7:8095600-8108600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:8095800-8108600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:8096000-8108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:8096000-8125800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:8096000-8127600	Weak transcription	Esophagus	oesophagus
33	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
34	chr7:8096200-8106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:8096200-8108400	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:8096400-8108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:8097200-8108200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:8097200-8114400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:8097400-8106600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:8097400-8124600	Weak transcription	Fetal Intestine Large	intestine
41	chr7:8099200-8113200	Strong transcription	Primary B cells from cord blood	blood
42	chr7:8100200-8108400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:8100400-8124600	Weak transcription	Liver	Liver
44	chr7:8100600-8108400	Weak transcription	Brain Anterior Caudate	brain
45	chr7:8100600-8112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:8100800-8125000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:8101600-8108400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:8102400-8106200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:8102400-8110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:8102400-8111800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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