Variant report

Variant	rs6732036
Chromosome Location	chr2:234323505-234323506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr2:234321888-234324518	A549	lung:	n/a	n/a
2	JUND	chr2:234321994-234324377	HCT-116	colon:	n/a	chr2:234322466-234322477 chr2:234324011-234324021 chr2:234322468-234322479 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020 chr2:234322367-234322378
3	SP1	chr2:234323431-234324207	A549	lung:	n/a	n/a
4	JUND	chr2:234321724-234323551	SK-N-SH	brain:	n/a	chr2:234322466-234322477 chr2:234322468-234322479 chr2:234322367-234322378
5	EP300	chr2:234321524-234324379	A549	lung:	n/a	chr2:234324011-234324020 chr2:234322103-234322117
6	NFIC	chr2:234322066-234323513	SK-N-SH	brain:	n/a	chr2:234322434-234322450 chr2:234322434-234322451
7	STAT3	chr2:234323472-234324270	MCF10A-Er-Src	breast:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
8	REST	chr2:234322026-234323702	A549	lung:	n/a	n/a
9	EP300	chr2:234322040-234323546	SK-N-SH	brain:	n/a	chr2:234322103-234322117
10	STAT1	chr2:234323143-234324464	Hela-S3	cervix:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
11	FOSL2	chr2:234321536-234324442	A549	lung:	n/a	chr2:234322466-234322477 chr2:234324011-234324021 chr2:234322468-234322479 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020 chr2:234322367-234322378
12	JUND	chr2:234322042-234323513	SK-N-SH	brain:	n/a	chr2:234322466-234322477 chr2:234322468-234322479 chr2:234322367-234322378
13	BCL3	chr2:234322078-234323660	A549	lung:	n/a	chr2:234323245-234323254
14	TCF12	chr2:234321567-234324262	A549	lung:	n/a	chr2:234323747-234323757 chr2:234324007-234324014
15	GATA3	chr2:234320854-234324466	A549	lung:	n/a	n/a
16	TCF12	chr2:234321974-234323541	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr2:234321632-234323519	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr2:234323434-234324173	Hela-S3	cervix:	n/a	n/a
19	MAX	chr2:234321520-234324396	A549	lung:	n/a	chr2:234322320-234322330 chr2:234324011-234324020
20	BCL3	chr2:234323437-234324397	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
2	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
3	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56836072	1.00[AFR][1000 genomes]
rs58963596	0.95[AFR][1000 genomes]
rs60732790	0.86[AFR][1000 genomes]
rs6709877	0.86[AFR][1000 genomes]
rs6738048	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs73995925	1.00[AFR][1000 genomes]
rs73995926	1.00[AFR][1000 genomes]
rs73995943	1.00[AFR][1000 genomes]
rs73995952	0.95[AFR][1000 genomes]
rs73995953	0.95[AFR][1000 genomes]
rs73995954	0.95[AFR][1000 genomes]
rs73996123	0.80[AFR][1000 genomes]
rs73996126	0.80[AFR][1000 genomes]
rs73997605	0.86[AFR][1000 genomes]
rs73997609	0.91[AFR][1000 genomes]
rs73997632	0.91[AFR][1000 genomes]
rs73997636	0.91[AFR][1000 genomes]
rs7562104	0.91[AFR][1000 genomes]
rs7588587	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs7594222	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7599218	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234317800-234327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:234319200-234326000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234319200-234326400	Weak transcription	Fetal Thymus	thymus
8	chr2:234319200-234326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234319200-234326800	Weak transcription	Thymus	Thymus
10	chr2:234321000-234327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:234321000-234327200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:234321000-234327600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:234321200-234324400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:234321400-234326800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:234321400-234326800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:234321400-234328000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:234321600-234324600	Enhancers	NHEK	skin
18	chr2:234321600-234325800	Enhancers	Stomach Mucosa	stomach
19	chr2:234321600-234328000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:234321800-234323800	Enhancers	Adipose Nuclei	Adipose
21	chr2:234321800-234324200	Enhancers	Colonic Mucosa	Colon
22	chr2:234321800-234324400	Enhancers	HUVEC	blood vessel
23	chr2:234321800-234324600	Enhancers	HMEC	breast
24	chr2:234321800-234325200	Enhancers	Small Intestine	intestine
25	chr2:234322000-234324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:234322000-234324200	Enhancers	Colon Smooth Muscle	Colon
27	chr2:234322000-234324200	Enhancers	NHDF-Ad	bronchial
28	chr2:234322000-234324400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:234322000-234324400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234322000-234324400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234322000-234324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:234322000-234324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:234322000-234324600	Enhancers	NH-A	brain
34	chr2:234322000-234326600	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr2:234322200-234323600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:234322200-234323600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:234322200-234323600	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr2:234322200-234323600	Enhancers	Placenta	Placenta
39	chr2:234322200-234323600	Enhancers	Ovary	ovary
40	chr2:234322200-234323800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:234322200-234324000	Enhancers	Liver	Liver
42	chr2:234322200-234324200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:234322200-234324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:234322200-234324200	Enhancers	Pancreas	Pancrea
45	chr2:234322200-234324200	Enhancers	NHLF	lung
46	chr2:234322200-234324800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:234322200-234324800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:234322200-234325600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:234322200-234325800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:234322200-234326600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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