Variant report

Variant	rs2307414
Chromosome Location	chr1:161199694-161199695
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161184335..161187137-chr1:161197763..161199815,2	MCF-7	breast:
2	chr1:161199634..161200167-chr16:88729164..88730077,2	Hela-S3	cervix:
3	chr1:161198933..161201204-chr1:161201944..161204407,2	MCF-7	breast:
4	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
5	chr1:161166482..161168159-chr1:161197739..161199881,2	MCF-7	breast:
6	chr1:161199382..161202351-chr1:161336794..161339245,2	K562	blood:
7	chr1:161197547..161200188-chr1:161200868..161203304,3	MCF-7	breast:
8	chr1:161192147..161195116-chr1:161197570..161199818,2	MCF-7	breast:
9	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143257	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000158869	Chromatin interaction
ENSG00000167508	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000260630	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11265559	1.00[CHD][hapmap]
rs12026649	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161196400-161207800	Weak transcription	Small Intestine	intestine
2	chr1:161197200-161199800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:161197600-161200200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:161197600-161200600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:161197600-161200800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:161197600-161201200	Genic enhancers	Fetal Intestine Small	intestine
7	chr1:161197600-161202200	Weak transcription	Fetal Brain Male	brain
8	chr1:161197600-161202600	Weak transcription	Fetal Kidney	kidney
9	chr1:161197600-161203200	Weak transcription	Right Atrium	heart
10	chr1:161197600-161205600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:161197800-161199800	Strong transcription	Hela-S3	cervix
12	chr1:161197800-161200200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:161197800-161200400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:161197800-161200400	Genic enhancers	Fetal Intestine Large	intestine
15	chr1:161197800-161200600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:161197800-161200600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:161197800-161200600	Strong transcription	Brain Cingulate Gyrus	brain
18	chr1:161197800-161200600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr1:161197800-161200800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr1:161197800-161200800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:161197800-161201000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:161197800-161201200	Strong transcription	Left Ventricle	heart
23	chr1:161197800-161201400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:161197800-161201800	Strong transcription	Fetal Brain Female	brain
25	chr1:161197800-161202400	Weak transcription	Stomach Mucosa	stomach
26	chr1:161198000-161200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:161198000-161200200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:161198000-161200200	Strong transcription	Colon Smooth Muscle	Colon
29	chr1:161198000-161200200	Strong transcription	Rectal Smooth Muscle	rectum
30	chr1:161198000-161200200	Strong transcription	Osteobl	bone
31	chr1:161198000-161200400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:161198000-161200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:161198000-161200600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:161198000-161200600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:161198000-161200600	Strong transcription	Adipose Nuclei	Adipose
36	chr1:161198000-161200600	Strong transcription	Brain Substantia Nigra	brain
37	chr1:161198000-161200600	Strong transcription	Dnd41	blood
38	chr1:161198000-161200600	Strong transcription	K562	blood
39	chr1:161198000-161200800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:161198000-161200800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:161198000-161200800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:161198000-161200800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:161198000-161200800	Strong transcription	Brain Anterior Caudate	brain
44	chr1:161198000-161200800	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:161198000-161200800	Strong transcription	Esophagus	oesophagus
46	chr1:161198000-161200800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:161198000-161200800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:161198000-161200800	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:161198000-161200800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:161198000-161200800	Strong transcription	Right Ventricle	heart

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