Variant report

Variant	rs540504021
Chromosome Location	chr2:37192346-37192347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37191677..37193362-chr2:37233119..37235779,2	K562	blood:
2	chr2:37186145..37190956-chr2:37191183..37194668,5	K562	blood:
3	chr2:37114816..37116390-chr2:37191550..37193356,2	MCF-7	breast:
4	chr2:37183661..37187179-chr2:37192061..37194972,3	MCF-7	breast:
5	chr2:37170595..37172882-chr2:37190992..37193264,2	K562	blood:

Variant related genes	Relation type
ENSG00000252518	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3440334	chr2:37192273-37194821	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
3	chr2:37179200-37192800	Weak transcription	Lung	lung
4	chr2:37186600-37192600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:37187400-37192400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:37187400-37192600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:37189200-37192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:37190200-37192800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:37191000-37192400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:37191000-37192400	Enhancers	Brain Angular Gyrus	brain
11	chr2:37191000-37192600	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:37191000-37192600	Enhancers	Small Intestine	intestine
13	chr2:37191000-37192800	Enhancers	Spleen	Spleen
14	chr2:37191200-37192800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:37191200-37192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:37191400-37192800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:37191600-37192400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:37191600-37192400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:37191600-37192400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:37191600-37192400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:37191600-37192400	Enhancers	Stomach Mucosa	stomach
22	chr2:37191600-37192600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:37191600-37192600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:37191600-37192600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:37191600-37192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:37191600-37192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:37191600-37193200	Flanking Active TSS	Dnd41	blood
28	chr2:37191600-37194600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:37191600-37194600	Active TSS	NHLF	lung
30	chr2:37191800-37192400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr2:37191800-37192400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:37191800-37192400	Enhancers	Aorta	Aorta
33	chr2:37191800-37192400	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:37191800-37192400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr2:37191800-37192400	Enhancers	Brain Hippocampus Middle	brain
36	chr2:37191800-37192400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:37191800-37192400	Enhancers	Fetal Intestine Small	intestine
38	chr2:37191800-37192400	Enhancers	Fetal Muscle Leg	muscle
39	chr2:37191800-37192400	Enhancers	Fetal Thymus	thymus
40	chr2:37191800-37192400	Enhancers	Thymus	Thymus
41	chr2:37191800-37192400	Flanking Active TSS	HMEC	breast
42	chr2:37191800-37192600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:37191800-37192600	Enhancers	Primary B cells from cord blood	blood
44	chr2:37191800-37192600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:37191800-37192600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37191800-37192600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:37191800-37192600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:37191800-37192600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:37191800-37192600	Enhancers	Brain Substantia Nigra	brain
50	chr2:37191800-37192600	Flanking Active TSS	A549	lung

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