Variant report

Variant	rs567599170
Chromosome Location	chr3:191073878-191073879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
2	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:

Variant related genes	Relation type
ENSG00000152492	Chromatin interaction

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

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	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1823184	chr3:191064803-191082303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1848120	chr3:191064803-191082303	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1839532	chr3:191065921-191074873	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:191062000-191075600	Weak transcription	K562	blood
4	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
5	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:191068600-191074600	Weak transcription	Fetal Stomach	stomach
7	chr3:191068600-191075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:191068600-191075000	Weak transcription	Aorta	Aorta
9	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
10	chr3:191068800-191075400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
12	chr3:191069400-191074200	Enhancers	HUVEC	blood vessel
13	chr3:191069400-191075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:191071000-191074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:191071000-191076000	Weak transcription	Primary T cells from cord blood	blood
17	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:191071200-191074000	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:191071200-191076800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:191071200-191078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:191071200-191078800	Weak transcription	Lung	lung
22	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
23	chr3:191071400-191074000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:191071400-191074200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:191071400-191074200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:191071400-191074200	Weak transcription	Right Atrium	heart
27	chr3:191071400-191074400	Weak transcription	Stomach Mucosa	stomach
28	chr3:191071400-191074800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:191071400-191075000	Weak transcription	Fetal Lung	lung
30	chr3:191071400-191075800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:191071400-191078400	Weak transcription	Fetal Intestine Small	intestine
32	chr3:191071400-191078800	Weak transcription	Gastric	stomach
33	chr3:191071400-191078800	Weak transcription	Pancreas	Pancrea
34	chr3:191071400-191078800	Weak transcription	Spleen	Spleen
35	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
36	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:191071600-191074400	Weak transcription	A549	lung
39	chr3:191071800-191074400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:191071800-191074400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:191071800-191075000	Enhancers	Liver	Liver
42	chr3:191072200-191075600	Weak transcription	Fetal Intestine Large	intestine
43	chr3:191072400-191076400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:191072600-191075800	Weak transcription	Brain Anterior Caudate	brain
45	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:191072800-191076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:191073000-191074400	Enhancers	Right Ventricle	heart
48	chr3:191073000-191074800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:191073200-191074000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:191073200-191074000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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