Variant report

Variant	rs2527691
Chromosome Location	chr7:2855803-2855804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:2855759-2855809	NHDF-neo	bronchial:	n/a
2	chr7:2855759-2855809	HEEpiC	esophagus:	n/a
3	chr7:2855759-2855809	SKMC	muscle:	n/a
4	chr7:2855759-2855809	CMK	blood:	n/a
5	chr7:2855759-2855809	AG04450	lung:	fetal
6	chr7:2855759-2855809	GM12878	blood:	n/a
7	chr7:2855759-2855809	T-47D	breast:	n/a
8	chr7:2855759-2855809	MCF-7	breast:	n/a
9	chr7:2855759-2855809	PANC-1	pancreas:	n/a
10	chr7:2855759-2855809	SAEC	small airway:	n/a
11	chr7:2855759-2855809	HAEpiC	amniotic membrane:	n/a
12	chr7:2855759-2855809	PFSK-1	brain:	n/a
13	chr7:2855759-2855809	HIPEpiC	eye:	n/a
14	chr7:2855759-2855809	SK-N-SH	brain:	n/a
15	chr7:2855759-2855809	Hela-S3	cervix:	n/a
16	chr7:2855759-2855809	ovcar-3	ovarian:	n/a
17	chr7:2855759-2855809	U87	brain:	n/a
18	chr7:2855759-2855809	AG10803	skin:	n/a
19	chr7:2855759-2855809	NB4	blood:	n/a
20	chr7:2855759-2855809	ProgFib	skin:	n/a
21	chr7:2855759-2855809	BE2_C	brain:	n/a
22	chr7:2855759-2855809	NH-A	brain:	n/a
23	chr7:2855759-2855809	NHBE	bronchial:	n/a
24	chr7:2855759-2855809	AoSMC	blood vessel:	n/a
25	chr7:2855759-2855809	AG04449	skin:	fetal
26	chr7:2855759-2855809	HRCEpiC	kidney:	n/a
27	chr7:2855759-2855809	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:2855759-2855809	RPTEC	kidney:	n/a
29	chr7:2855759-2855809	HepG2	liver:	n/a
30	chr7:2855759-2855809	SK-N-SH_RA	brain:	n/a
31	chr7:2855759-2855809	SK-N-MC	brain:	n/a
32	chr7:2855759-2855809	HCM	heart:	n/a
33	chr7:2855759-2855809	HCPEpiC	choroid plexus:	n/a
34	chr7:2855759-2855809	HEK293	kidney:	embryo
35	chr7:2855759-2855809	GM12891	blood:	n/a
36	chr7:2855759-2855809	BJ	skin:	n/a
37	chr7:2855759-2855809	H1-hESC	embryonic stem cell:	embryo
38	chr7:2855759-2855809	IMR90	lung:	fetal
39	chr7:2855759-2855809	Jurkat	blood:	n/a
40	chr7:2855759-2855809	HNPCEpiC	eye:	n/a
41	chr7:2855759-2855809	HCT-116	colon:	n/a
42	chr7:2855759-2855809	AG09319	gingival:	n/a
43	chr7:2855759-2855809	K562	blood:	n/a
44	chr7:2855759-2855809	HRE	kidney:	n/a
45	chr7:2855759-2855809	HRPEpiC	eye:	n/a
46	chr7:2855759-2855809	NT2-D1	testis:	n/a
47	chr7:2855759-2855809	HL-60	blood:	n/a
48	chr7:2855759-2855809	GM06990	blood:	n/a
49	chr7:2855759-2855809	Caco-2	colon:	n/a
50	chr7:2855759-2855809	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
GNA12	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs208344	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2842600-2869400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2843000-2860800	Weak transcription	Esophagus	oesophagus
3	chr7:2843200-2857400	Weak transcription	Brain Germinal Matrix	brain
4	chr7:2843200-2860800	Weak transcription	HSMMtube	muscle
5	chr7:2843200-2864400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:2843600-2857200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:2843600-2860600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:2843600-2864400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:2844000-2858800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:2845800-2862200	Weak transcription	K562	blood
11	chr7:2847800-2858800	Weak transcription	HSMM	muscle
12	chr7:2848200-2858800	Weak transcription	NHEK	skin
13	chr7:2848400-2858800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:2848400-2859400	Weak transcription	Fetal Intestine Large	intestine
15	chr7:2848600-2864000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:2848800-2857200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:2848800-2858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:2848800-2858600	Weak transcription	Gastric	stomach
19	chr7:2848800-2863400	Weak transcription	Fetal Brain Female	brain
20	chr7:2848800-2874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:2849000-2857200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:2849400-2860800	Weak transcription	Stomach Mucosa	stomach
23	chr7:2849600-2866000	Enhancers	Placenta	Placenta
24	chr7:2851000-2857600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:2851000-2860200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:2851200-2857600	Weak transcription	Fetal Heart	heart
27	chr7:2851200-2858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:2851600-2858600	Weak transcription	HMEC	breast
29	chr7:2851600-2858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:2851600-2860600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:2851600-2861000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:2851600-2861000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:2851600-2869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:2851800-2860400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:2851800-2882800	Weak transcription	Aorta	Aorta
36	chr7:2852000-2857000	Weak transcription	Liver	Liver
37	chr7:2852000-2857600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:2852000-2858600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:2852000-2858800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:2852000-2860400	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:2852400-2857200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:2852400-2857400	Weak transcription	Fetal Lung	lung
43	chr7:2852600-2857200	Enhancers	Lung	lung
44	chr7:2852600-2857800	Weak transcription	Osteobl	bone
45	chr7:2853000-2856000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:2853200-2857800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:2853200-2860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:2853400-2857200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:2853600-2858400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:2853600-2858800	Weak transcription	Hela-S3	cervix

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