Variant report

Variant	rs28446670
Chromosome Location	chr7:99965915-99965916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99965641..99971124-chr7:100025245..100028820,5	MCF-7	breast:
2	chr7:99964978..99968212-chr7:99999516..100003937,4	K562	blood:
3	chr7:99965537..99967599-chr7:100004914..100006864,2	K562	blood:
4	chr7:99953918..99957943-chr7:99965213..99968518,4	K562	blood:
5	chr7:99964487..99968212-chr7:99999516..100003937,5	K562	blood:
6	chr7:99953591..99956597-chr7:99962899..99966077,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000121716	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13237608	1.00[LWK][hapmap]
rs2293483	1.00[LWK][hapmap]
rs4999572	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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	287 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
3	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
4	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
5	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:99942800-99966400	Strong transcription	A549	lung
7	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
9	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
11	chr7:99944000-99967000	Strong transcription	Brain Anterior Caudate	brain
12	chr7:99944200-99967400	Strong transcription	Brain Germinal Matrix	brain
13	chr7:99945400-99969400	Weak transcription	Fetal Heart	heart
14	chr7:99945600-99966000	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:99946000-99966800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:99946400-99967400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:99957000-99966400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:99957200-99967000	Weak transcription	Stomach Mucosa	stomach
19	chr7:99959600-99970200	Weak transcription	HSMM	muscle
20	chr7:99959800-99966800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:99960000-99967400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:99960200-99966400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:99960200-99968400	Weak transcription	Gastric	stomach
24	chr7:99960200-99969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
27	chr7:99960600-99967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:99960600-99970000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
30	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
32	chr7:99960800-99971800	Weak transcription	HSMMtube	muscle
33	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:99961200-99969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:99961200-99969800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:99961200-99970000	Weak transcription	NHEK	skin
37	chr7:99961400-99967800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:99961400-99967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:99961400-99969000	Weak transcription	Hela-S3	cervix
40	chr7:99961400-99969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:99961400-99970000	Weak transcription	HUVEC	blood vessel
42	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
43	chr7:99961600-99970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:99961600-99970400	Weak transcription	Fetal Lung	lung
45	chr7:99961600-99970600	Weak transcription	HepG2	liver
46	chr7:99962000-99967800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:99962000-99970200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:99962200-99967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:99962200-99970000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:99962200-99970800	Weak transcription	NH-A	brain

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