Variant report

Variant	rs6730985
Chromosome Location	chr2:97370659-97370660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97369185..97370704-chr2:97506974..97509345,2	K562	blood:
2	chr2:97369454..97371972-chr2:97373419..97375966,2	K562	blood:
3	chr2:97361665..97367083-chr2:97369307..97373546,6	K562	blood:
4	chr2:97350901..97353788-chr2:97370557..97372504,2	MCF-7	breast:
5	chr2:97370422..97372172-chr2:97376973..97379137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114988	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11901393	0.83[AFR][1000 genomes]
rs36121810	0.84[ASW][hapmap];0.88[LWK][hapmap];0.81[YRI][hapmap]
rs7580748	0.90[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97351800-97372800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97351800-97373600	Weak transcription	Fetal Brain Male	brain
3	chr2:97353800-97371200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:97358400-97375400	Weak transcription	Fetal Heart	heart
5	chr2:97360800-97375000	Strong transcription	Fetal Intestine Small	intestine
6	chr2:97360800-97381200	Strong transcription	Fetal Stomach	stomach
7	chr2:97361200-97371600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:97361400-97371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:97362600-97376600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:97362800-97379800	Strong transcription	Fetal Intestine Large	intestine
11	chr2:97364200-97370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:97365000-97389400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:97365200-97387000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:97365400-97382400	Strong transcription	Primary T cells from cord blood	blood
15	chr2:97365600-97380400	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:97365800-97372000	Weak transcription	Brain Substantia Nigra	brain
17	chr2:97365800-97375000	Strong transcription	Fetal Brain Female	brain
18	chr2:97366000-97379800	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:97366400-97372000	Weak transcription	NHDF-Ad	bronchial
20	chr2:97366800-97380200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr2:97367000-97370800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:97367000-97370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:97367200-97370800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:97367200-97371200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:97367200-97378000	Strong transcription	Colonic Mucosa	Colon
26	chr2:97367400-97372000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:97367400-97372000	Weak transcription	Stomach Mucosa	stomach
28	chr2:97367400-97375000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:97367400-97377800	Strong transcription	Brain Hippocampus Middle	brain
30	chr2:97367400-97380200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:97367400-97382600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:97367600-97375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:97367600-97378600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:97367600-97381000	Strong transcription	HepG2	liver
35	chr2:97367800-97374800	Strong transcription	Spleen	Spleen
36	chr2:97367800-97375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:97367800-97375000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:97367800-97378000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:97367800-97378800	Strong transcription	Lung	lung
40	chr2:97367800-97379000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr2:97367800-97379400	Strong transcription	Right Ventricle	heart
42	chr2:97367800-97379800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:97367800-97380000	Strong transcription	Liver	Liver
44	chr2:97367800-97380200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:97367800-97382800	Strong transcription	Brain Anterior Caudate	brain
46	chr2:97368000-97372600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:97368000-97375200	Strong transcription	Thymus	Thymus
48	chr2:97368000-97379600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:97368000-97380200	Strong transcription	Ovary	ovary
50	chr2:97368200-97375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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