Variant report

Variant	rs55750768
Chromosome Location	chr7:101954567-101954568
allele	A/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	RUNX3	chr7:101954510-101954996	GM12878	blood:	n/a	n/a
2	RUNX3	chr7:101954556-101954934	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101928654..101931146-chr7:101953140..101955498,2	MCF-7	breast:

Variant related genes	Relation type
SH2B2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73712461	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
12	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
13	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
15	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101944000-101975400	Weak transcription	Right Atrium	heart
2	chr7:101944200-101957600	Weak transcription	Ovary	ovary
3	chr7:101944200-101958200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:101944400-101959200	Weak transcription	Esophagus	oesophagus
5	chr7:101947800-101959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:101948200-101960400	Weak transcription	Right Ventricle	heart
7	chr7:101949600-101957800	Weak transcription	Aorta	Aorta
8	chr7:101950600-101961400	Weak transcription	Left Ventricle	heart
9	chr7:101950800-101954600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:101950800-101959600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:101950800-101961400	Weak transcription	Pancreas	Pancrea
12	chr7:101950800-101961600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:101950800-101962200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:101950800-101963800	Strong transcription	Brain Germinal Matrix	brain
15	chr7:101951000-101955200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:101951000-101957400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:101951000-101957600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:101951000-101957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:101951000-101957600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:101951000-101957800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:101951000-101958200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:101951000-101958400	Weak transcription	Adipose Nuclei	Adipose
23	chr7:101951000-101959400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:101951000-101959600	Weak transcription	Psoas Muscle	Psoas
25	chr7:101951000-101960000	Weak transcription	Colonic Mucosa	Colon
26	chr7:101951000-101961400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:101951000-101961400	Weak transcription	Fetal Kidney	kidney
28	chr7:101951000-101961400	Strong transcription	Fetal Stomach	stomach
29	chr7:101951000-101961400	Weak transcription	Gastric	stomach
30	chr7:101951000-101961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:101951000-101961800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:101951000-101963000	Weak transcription	Fetal Lung	lung
33	chr7:101951000-101964000	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:101951000-101964400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:101951200-101955200	Genic enhancers	GM12878-XiMat	blood
36	chr7:101951200-101959000	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:101951200-101959200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:101951200-101961400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:101951200-101962600	Weak transcription	HSMM	muscle
40	chr7:101951400-101961600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:101951600-101954600	Strong transcription	Fetal Intestine Small	intestine
42	chr7:101951600-101954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:101951600-101957800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:101951600-101961600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:101951600-101962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:101952000-101957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:101952200-101957600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:101952400-101962800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:101952600-101957600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:101952600-101957600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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